cafe au lait macule - HEALTHY
“Jaffe–Campanacci syndrome” describes the complex of multiple nonossifying fibromas of the long bones, mandibular giant cell lesions, and café-au-lait macules in individuals without neurofibromas. We...
May 31, 2026
“Jaffe–Campanacci syndrome” describes the complex of multiple nonossifying fibromas of the long bones, mandibular giant cell lesions, and café-au-lait macules in individuals without neurofibromas. We ... Over time, the index patient developed one café-au-lait macule and multiple lentigines.
Context Explanation
Following confirmation that he also inherited biallelic compound heterozygosity for PMS2 mutations at age 17 ...